V41E (p.Val41Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
V41E (p.Val41Glu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V41E (p.Val41Glu) variant details
- p.Val41Glu
- gnomAD 3-10032338-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 5.52
- Population evidence available
- Structural context available
- Literature evidence available